Variant (rsID / SNP)

rs781784543

rs781784543 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC37A4. Location: chromosome 11, position 118,897,689. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

SLC37A4Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:118897689
Cytoband: 11q23.3
HGVS: NM_001164277.2(SLC37A4):c.742C>T (p.Gln248Ter)
Allele change: Nonsense_Q248X

Associated conditions / phenotypes

Glucose-6-phosphate transport defect

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.